DISTRIBUTION OF DNA DAMAGE REPAIR GENE POLYMORPHISM hOGG1, XRCC1 and p53 AMONG SICKLE CELL DISEASE PATIENTS IN INDIA

Sudhansu Sekhar Nishank
  • Sudhansu Sekhar Nishank
    Dr. Sudhansu Sekhar Nishank ( Email - nishank25@gmail.com ) DIV OF GENETICS REGIONAL MEDICAL RESEARCH CENTRE FOR TRIBALS (ICMR) NAGPUR ROAD, P.O.- GARHA JABALPUR-482003 MADHYA PRADESH, INDIA, India | nishank25@gmail.com

Abstract

Background– Defect in DNA damage repair genes due to oxidative stress predispose the humans to malignancies. There are many cases of association of malignancies with sickle cell disease patients (SCD) throughout the world, the molecular cause of which has never been investigated. DNA damage repair genes such as  hOGG1, XRCC1 and p53 play significant role in repair of DNA damage during oxidative stress but the distribution and clinical effect of these genes are not known till date in SCD patients who are associated with oxidative stress related clinical complications.      

  Objective – The aim of the study was to characterize the distribution and clinical effect of DNA damage gene polymorphisms p53 (codon 72 Arg> Pro), hOGG1 (codon 326 Ser>Cyst) and XRCC1 (codons 194 Arg>Trp, codon 280 Arg> His, codon 399 Arg> Gln) among SCD patients of  central India.

 Methods- A case control study of  250 SCD patients and 250 normal individuals were investigated by PCR-RFLP techniques.   

  Result- The prevalence of mutant alleles of hOGG1 gene, XRCC1 codon 280 Arg>His  were found to be significantly high among SCD patients as compared to controls. However, SCD patients did not show clinical association with any of these DNA repair gene polymorphisms.

  Conclusion- This indicates that hOGG1, p53  and XRCC1 gene polymorphisms  may not have any clinical impact among SCD patients in India.

Keywords

hOGG1 gene, p53 gene, XRCC1 gene, sickle cell disease, malignancies

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References

References-

Chirico EN, Pialoux V. Role of oxidative stress in the pathogenesis of sickle cell disease. IUBMB Life, 2012; 64 : 72–80

Barzilai A, Yamamoto KI,. DNA damage response to oxidative stress. DNA repair. 2004; 3: 1109-1115

Watanabe IC, Billis A, Guimara˜es MS, et al. Renal medullary carcinoma: report of seven cases from Brazil. Modern Pathology. 2007; 20 : 914–920

Bielack SS, Rerin JS, Dickerhoff R, et al; Cooperative German-Austrian-Swiss Osteosarcoma Study Group (COSS). Bone marrow Transplant. 2003; 313: 53-9

Duong S, Sallis JG, Zee SY. Malignant fibrous histiocytoma arising within a bone infarct in a patient with sickle cell trait. Int J Surg Pathol. 2004;12(1):67-73

Wu F, Zhang Z, Wan J, Gu S, Liu W, Jin X, et al. Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population. Toxicology and Applied Pharmacology, 2008; 233: 447– 453

Chien WP, Wong RH, Wu TC, Cheng YW,Chen CY, Lee H. Potential increase in the prognostic value of p53 mutation by Pro72 allele in stage I non-small cell lung cancer. Ann.Surg.Oncol.; 2009; DOI 10.1245/s10434-009-0495-4

Wong RH, Chang SY, Ho SW, Huang PL, Liu YJ, Chen YC et al. Polymorphisms in GSTP1 and DNA-repair XRCC1 genes with increased risk of DNA damage in pesticide-exposed fruit growers. Mutat Res. 2008, 654: 168-75. doi: 10.1016/j.mrgentox.2008.06.005

Skjelbred CF, Svendsen M, Haugan V Influence of DNA repair gene polymorphisms of hOGG1, XRCC1, XRCC3, ERCC2 and the folate metabolism gene MTHFR on chromosomal aberration frequencies. Mutat Res. 2006; 602: 151-62.

Kiran M., Saxena R, Chawla YK, Kaur J. Polymorphism of DNA repair gene XRCC1 and hepatitis related hepatocellular carcinoma risk in Indian population. Mol Cell Biochem. 2009; DOI 10.1007/s11010-009-0035-3

Srivastava A, Srivastava K, Pandey SN, Choudhuri G, Mittal B. Single nucleotide polymorphisms of DNA repair genes OGG1 and XRCC1: Association with gallbladder cancer in north Indian population. Ann Surg Oncol. 2009;16: 1695 – 1703

Sangrajrang S, Schmezer P, Burkholder I, Waas, Boffetta P, Brennan P et al. Polymorphisms in three base excision repair genes and breast cancer risk in Thai women. Breast Cancer Res Treat, .2008; 111: 279 – 288

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